‘Keep Looking, Keep Working and Keep Fighting’

By

Taylor Kane

Feb 19, 2021 • 2 min read

Blog post originally written by the AllStripes community team. AllStripes was acquired by PicnicHealth in 2023.

Xander seemed perfectly healthy his first few months of life. When he was around six to eight months, Yohanna began to notice he wasn’t hitting milestones and didn’t seem interested in his toys.

As part of a program for first-time mothers in New York, a nurse would regularly come to the family’s house to help out with Xander. Yohanna discussed her concerns with the nurse, who suggested she take her son to a pediatrician in case he needed early intervention.

Over a year later, Xander was diagnosed with autism and he began attending a center to receive therapy. However, Yohanna realized her son wasn’t making strides like the other developmentally disabled children at the center. “Xander was stuck doing the same thing,” Yohanna remembers. She had a suspicion there was something else impacting her son.

Getting Xander a diagnosis wasn’t easy. For quite some time, when Yohanna expressed her concerns to doctors, they continuously brushed her off. One pediatrician told her that she shouldn’t worry because boys tend to develop more slowly. Yohanna’s intuition told her she had to keep looking for answers.

“Keep going. You’re going to find the answer, but you’ve got to keep going,” she advises other parents on the same journey.

After pushing for genetic testing, Xander was diagnosed with SLC6A1. Yohanna explains that while she was relieved to finally get a diagnosis, at the same time she found it devastating, as SLC6A1 is a rare disease with no treatment. “Even though you know something is wrong... you don’t want to be right,” Yohanna reflects.

Today, Xander is three years old. Ever since he was diagnosed with SLC6A1, Yohanna and her husband have become involved in fundraising to help support research for their son’s condition. They also started a GoFundMe page to raise money for SLC6A1 Connect, a non-profit organization committed to raising awareness and finding treatments for children with SLC6A1.

Still, Yohanna knows that the family’s journey with SLC6A1 has only just begun. She readily admits that she does not know what Xander’s future will look like. “I’m always thinking, what is going to happen to him if I’m not here?” Still, the family has come a long way since receiving Xander’s diagnosis.

“It was a long journey, but we did it. We finally got a diagnosis for him. We are going to fight for him,” Yohanna says.

Yohanna signed up for the AllStripes SLC6A1 research program because she believes “the more we know, the better.” She sees AllStripes as a valuable tool for the SLC6A1 community to utilize in order to share their medical records and help advance research. She also believes additional research will lead to more children who are currently thought to have autism spectrum disorders to be diagnosed with SLC6A1. Recent research has shown that 80% of autism spectrum disorders are related to genetics.

Yohanna wants to tell parents of children currently going through a diagnostic odyssey to keep looking for answers: “Keep looking, keep working and keep fighting!”

We know that every person's story is unique and deserves to be heard.

Create a List

List the names of all the doctors, hospitals, and other facilities your loved one visits regularly, along with those they have visited in the past. Try to go back as far as you can, striving for at least the last 5-10 years, but do your best. Even if you can’t remember them all, having a strong baseline can help you quickly identify gaps in records.

Ensure You Have the Appropriate Legal Status

It is important to make sure that you are fully empowered to make decisions on behalf of your loved one with Alzheimer’s. Your relationship status with the patient may not be enough to legally give you access to your loved one's medical information. It is a good idea to talk to an expert about securing special legal status, such as Power of Attorney (POA), a legal document that allows an individual to name someone as their decision maker should they no longer be able to make decisions on their own.

Gather and Organize the Medical Records in One Place

It’s important to have all of your loved one’s medical records together in one spot. This makes it much easier for you and your loved one’s physicians to accurately map the patient’s medical journey and more easily share information between doctors. Fortunately, tools exist to make record management and access simple. A free resource like PicnicHealth helps you collect and organize all of this information. PicnicHealth’s intuitive timeline allows you to pinpoint data across the medical history, eliminating your need for keeping heavy binders filled with paper records or keeping track of multiple software portal logins.

Review the Medical Records to be an Informed Advocate

The better you understand your loved one's medical history, the better you can advocate on their behalf. Access and understanding of this information will help you to ask informed questions with physicians. Through regular communication backed by the data in the medical records, you can help your loved one’s care team develop a more successful care plan.

Learn more about PicnicHealth’s commitment to the Alzheimer’s community and the Alzheimer’s Association

1. Build a support network.

When you’re juggling appointment times and insurance claims, putting a robust support system together might not strike you as the most urgent task. Investing the time to cultivate relationships with people can turn to in times of need will pay dividends. The next time you need a last-minute ride or just someone to listen, you won’t be on your own.

There are many condition-specific support groups and support groups for caregivers generally in person or online. In addition to the encouragement and empathy they provide, support groups can be a helpful source of tips, resources, and recommendations for navigating caregiving.

2. Stay organized.

The backbone of effective caregiving is organization. Keep medical information, appointment schedules, and medication lists in order. Use a planner or a digital service like PicnicHealth to stay on top of your responsibilities. This attention to detail can prevent future complications and reduce day-to-day stress.

3. Explore treatments and clinical trials.

We’ve seen incredible breakthroughs in treatment over the past couple of years, powered by patients and their caregivers participating in research. Stay in the loop about the latest in medical advancements and available resources that could benefit your loved one. Whether it’s a new therapy option or a community service that aids independence, being informed can make a world of difference in the quality of care you provide.

4. Make time for self-care.

It may seem self-centered to focus on self-care—but when you feel good, you can be a better caregiver. Whether it’s exercise, a mindfulness practice, a soak in the bath, or just time to rest when you need it, carve out those moments in the day when you can unwind, reset, and stay healthy mentally and physically. Think of it as building up your reserves of kindness, patience, and understanding—which can only benefit your loved one. No one can pour from an empty cup.